Polyflagellated macrocephalic spermatozoa: failure factor in IVF/ICSI
DOI:
https://doi.org/10.18203/2320-1770.ijrcog20175040Keywords:
Macrocephaly, Microinjection, SpermatozoaAbstract
The authors report two cases of male infertility characterized by spermatic abnormalities of polyflagellated macrocephalic spermatozoa type affecting the entire gametes population. They demonstrate, on the one hand, the technical limitations of microinjection with such spermatozoa due to the large volume of their head and, on the other hand, the unfavourable outcome of the IVF-ICSI with this type of spermatozoa carrying abnormalities constituent. Molecular analysis of the somatic DNA of these subjects revealed a homozygous c.144delC mutation of the Aurora Kinase C gene. Consanguinity at the level of these subjects’ parents appears to be the main risk factor. This situation constitutes a factor of failure of the IVF and leads to direct the couple towards the donation of gametes or the adoption as solution to the parental project.
References
Barrier P. The spermiological limits to AMP.J Gynecol Obstet Biol Reprod. 2005;34:5S34-5S37.
In't Veld PA, Broekmans FJ, France HF, Pearson PL, Pieter MH, Van Kooij RJ. Intracytoplasmic sperm injection (ICSI) and chromosomal abnormal spermatozoa. Hum Reprod. 1997;12:752-4.
Guttenbach M, Martinez-Exposito MJ, Michelmann HW, Engel W, Schmid M. Incidence of diploid and disomic sperm nuclei in 45 infertile men. Hum Reprod. 1997;12:468-473.
Miharu N, Best RG, Young SR. Numerical chromosome abnormalities in spermatozoa of fertile and infertile men detected by fluorescence in situ hybridization. Hum Genet. 1994;93:502-6.
Bernardini L, Borini A, Preti S, Conte N, Flamigini C, Capitanio GL, Venturini PL. Study of analgesia in normal and abnormal germ cells from fertile and infertile men. Hum Reprod. 1998;13:3406-13.
Aran B, Blanco J, Vidal F, Vendrell JM, Egozcue S, Barri PN et al. Screening for abnormalities of chromosomes X, Y, and 18 and for diploidy in spermatozoa from infertile men participating in an in vitro Fertilization-intracytoplasmic sperm injection program. Fertil Steril. 1999;72:696-701.
Ushijima C, Kumasako Y, Kihaile PE, Hirotsuru K, Utsunomiya T. Analysis of chromosomal abnormalities in human spermatozoa using multi-color fluorescence in situ hybridization. Hum Reprod. 2000;15:1107-11.
Vegetti W, Van Assche E, Frias A, Verheyen G, Bianchi MM, Bonduelle M et al. Correlation between semen parameters and sperm aneuploidy rats investigated by fluorescence in-situ hybridization in infertile men. Hum Reprod. 2000;15:351-365.
Martin RH, Rademaker AW, Greene C, Ko E, Hoang T, Barclay L, Chernos J. A comparison of the sperm chromosome abnormalities in men with mild, moderate, and severe oligozoospermia. Biol Reprod. 2003;69:535-9.
Bernadini L, Gianaroli L, Fortini D, Conte N, Magli C, Cavani S et al. Frequency of hyper, hypohaploidy and diploidy in ejaculate, epididymal and testicular germ cells of infertile patients. Hum Reprod. 2000;15:2165-72.
Nishikawa N, Murakami I, Ikuta K, Suzumori K. Sex chromosomal analysis of spermatozoa from infertile men using fluorescence in situ hybridization. J Assist Reprod Genet. 2000;17:97-102.
Rubio C, Gil-Salom M, Simon C, Vidal F, Rodrigo L, Minguez Y et al. The authors of this study were able to evaluate the incidence of sperm chromosomal abnormalities in a group of patients. Hum Reprod. 2001;16:2084-92.
Viville S, Mollard R, Bach ML, Falquet C, Gerlinger P, Warter S. Do morphological anomalies reflect chromosomal aneuploidies? Case report. Hum Reprod. 2000;15:2563-6.
Vicari E, Perdichizzi A, De Palma A, Burrello N, D'Agata R, Calogero AE. Globozoospermia is associated with chromatin structure abnormalities: case report. Hum Reprod. 2002;17:2128-33.
Lewis-Jones I, Aziz N, Seshadri S, Douglas A, Howard P. Sperm chromosomal abnormalities are linked to sperm morphologic deformities. Fertil Steril. 2003;79:212-5.
Mateu E, Rodrigo L, Prados N, Gil-Salom M, Remohi J, Pellecier A et al. High incidence of chromosomal abnormalities in large-headed and multiple-tailed spermatozoa. J Androl. 2006;27:6-10.
Rosemberg MJ, Wyrobek AJ, Ratcliffe J, Gordon LA, Watchmaker G, Fox SH et al. Sperm as an indicator of reproductive risk among petroleum refinery workers. Br J Ind Med. 1985;42:123-7.
Dieterich K, Rifo RS, Faure AK, Hennebicq S, Amar BB, Mohamed Z et al. Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility. Nat Genet. 2007;39:661-5.
Achard V, Guichaoua MR. Macrocephalic spermatozoa polyflagelle syndrome and Medical Assistance to the Procreation. Androl. 2005;15:185-8.
Devillard F, Metzler-Guillemain C, Pelletier R, De Robertis C, Bergues U, Hennebicq S et al. Polyploidy in large-head sperm: FISH study of three cases. Hum Reprod. 2002;17:1292-8.
Pfeffer J, Pang MG, Hoegerman SF, Osgood CJ, Stacey MW, Mayer J et al. Aneuploidy infertility in semen fractions from ten oligoasthenoteratozoospermic patients donating sperm for intracytoplasmic sperm injection. Fertil Steril. 1999;72:472-8.
Karhaman S, Akarsu C, Cengiz G, Dirican K, Sözen E, Belgin C et al. Fertility of ejaculated and testicular megalohead spermatozoa with intracytoplasmic sperm injection. Hum Reprod. 1999;14(3):726-730.
Gianaroli L, Magli MC, Ferraretti AP, Iammarrone E. Preimplantation diagnosis after assisted reproduction techniques for genetically-determined male infertility. J Endocrinol Invest. 2000;23:711-6.
Silber S, Escudero T, Lenahan K, Abdelhadi I, Kilani Z, Munne S. Chromosomal abnormalities in embryos derived from testicular sperm extraction. Fertil Steril. 2003;79:30-8.